dbVar for OMIM (Select 604212) - dbVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from OMIM

Items: 15

loading data ...

Number of Variants: 15

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7094807	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,723,944-14,724,045 , GRCh38.p12 chr16: 14,630,087-14,630,188 , GRCh38.p12 chr16\|NT_187607.1: 202,943-203,044	PARN
nsv7094806	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,530,574-14,530,649 , GRCh38.p12 chr16: 14,436,717-14,436,792 , GRCh38.p12 chr16\|NT_187607.1: 9,574-9,649	PARN
nsv7094753	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr16: 14,645,868-14,711,517 , GRCh38.p12 chr16: 14,552,011-14,617,660 , GRCh38.p12 chr16\|NT_187607.1: 124,868-190,516	PARN, RN7SL274P
nsv7094752	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,540,725-14,576,704 , GRCh38.p12 chr16\|NT_187607.1: 19,725-55,704 , GRCh38.p12 chr16: 14,446,868-14,482,847	PARN
nsv7094751	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,530,574-14,724,045 , GRCh38.p12 chr16\|NT_187607.1: 9,574-203,044 , GRCh38.p12 chr16: 14,436,717-14,630,188	LOC105371094, PARN, 2 more genes
nsv7094649	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,530,574-14,576,704 , GRCh38.p12 chr16: 14,436,717-14,482,847 , GRCh38.p12 chr16\|NT_187607.1: 9,574-55,704	PARN
nsv6309841	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr16: 14,645,858-14,724,045 , GRCh38.p12 chr16: 14,552,001-14,630,188 , GRCh38.p12 chr16\|NT_187607.1: 124,858-203,044	PARN, RN7SL274P
nsv6309840	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 14,645,858-14,711,527 , GRCh38.p12 chr16: 14,552,001-14,617,670 , GRCh38.p12 chr16\|NT_187607.1: 124,858-190,526	PARN, RN7SL274P
nsv6309822	copy number variation	2	nstd102	human	Pathogenic, Likely pathogenic	GRCh37 chr16: 14,711,427-14,711,527 , GRCh38.p12 chr16: 14,617,570-14,617,670 , GRCh38.p12 chr16\|NT_187607.1: 190,426-190,526	PARN
nsv6309649	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr16: 14,693,741-14,704,686 , GRCh38.p12 chr16: 14,599,884-14,610,829 , GRCh38.p12 chr16\|NT_187607.1: 172,741-183,686	PARN, RN7SL274P
nsv5672679	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr16: 14,645,858-14,649,586 , GRCh38.p12 chr16: 14,552,001-14,555,729 , GRCh38.p12 chr16\|NT_187607.1: 124,858-128,586	PARN
nsv5380993	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,693,751-14,724,045 , GRCh38.p12 chr16\|NT_187607.1: 172,751-203,044 , GRCh38.p12 chr16: 14,599,894-14,630,188	PARN, RN7SL274P
nsv5380776	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,674,711-14,724,002 , GRCh38.p12 chr16: 14,580,854-14,630,145 , GRCh38.p12 chr16\|NT_187607.1: 153,711-203,001	RN7SL274P, PARN
nsv4682017	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 14,530,554-14,703,000 , GRCh38.p12 chr16: 14,436,697-14,609,143 , GRCh38.p12 chr16\|NT_187607.1: 9,554-182,000	PARN, LOC107984865, 2 more genes
nsv3873785	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 14,564,415-14,586,023 , GRCh37 chr16: 14,658,272-14,679,880	PARN

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

dbVar for OMIM (Select 604212) (16)
dbVar

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Variation > Database of Genomic Structural Variation (dbVar)