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dbVar

Database of genomic structural variation

nsv6135003

Organism: Homo sapiens

Study:nstd213 (Pham et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:150,003

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 464 SVs from 59 studies. See in: genome view

Remapped(Score: Good):175,392,211-175,542,213

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6135003	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	175,392,211	175,542,213
nsv6135003	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_019805489.1	Chr3\|NW_01 9805489.1	65,728	197,752
nsv6135003	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	175,110,000	175,260,001

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17679485	copy number gain	SAMN20524660	Sequencing	Paired-end mapping	208
nssv17679530	copy number gain	SAMN20524658	Sequencing	Paired-end mapping	48

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17679485	Remapped	Pass	NW_019805489.1:g.6 5728_197752dup	GRCh38.p12	Second Pass	NW_019805489.1	Chr3\|NW_01 9805489.1	65,728	197,752
nssv17679530	Remapped	Pass	NW_019805489.1:g.6 5728_197752dup	GRCh38.p12	Second Pass	NW_019805489.1	Chr3\|NW_01 9805489.1	65,728	197,752
nssv17679485	Remapped	Good	NC_000003.12:g.175 392211_175542213du p	GRCh38.p12	First Pass	NC_000003.12	Chr3	175,392,211	175,542,213
nssv17679530	Remapped	Good	NC_000003.12:g.175 392211_175542213du p	GRCh38.p12	First Pass	NC_000003.12	Chr3	175,392,211	175,542,213
nssv17679485	Submitted genomic		NC_000003.11:g.175 110000_175260001du p	GRCh37 (hg19)		NC_000003.11	Chr3	175,110,000	175,260,001
nssv17679530	Submitted genomic		NC_000003.11:g.175 110000_175260001du p	GRCh37 (hg19)		NC_000003.11	Chr3	175,110,000	175,260,001

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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