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

dbVar

Database of genomic structural variation

nsv7096723

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:44,524

Description:NC_000004.11:g.(?_128841775)_(128886298_?)del AND Neuronal ceroid lipofuscinosis 7

Links to Other Resources

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: 252 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):127,920,620-127,965,143

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096723	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	127,920,620	127,965,143
nsv7096723	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	128,841,775	128,886,298

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790086	deletion	Multiple	Multiple	CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis	Pathogenic	ClinVar	RCV003113742.2, VCV002427413.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790086	Remapped	Perfect	NC_000004.12:g.(?_ 127920620)_(127965 143_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	127,920,620	127,965,143
nssv18790086	Submitted genomic		NC_000004.11:g.(?_ 128841775)_(128886 298_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	128,841,775	128,886,298

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790086	GRCh37: NC_000004.11:g.(?_128841775)_(128886298_?)del	deletion	germline	CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis	Pathogenic	ClinVar	RCV003113742.2, VCV002427413.2

No genotype data were submitted for this variant

You are here: NCBI