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

dbVar

Database of genomic structural variation

nsv5381427

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:326,792

Description:
See descriptions for individual calls in download files

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: 1200 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):127,883,262-128,210,053

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381427	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	127,883,262	128,210,053
nsv5381427	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	128,804,417	129,131,208

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866297	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001305226.1, VCV001007966.1
nssv17173242	duplication	Multiple	Multiple	CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV000708382.1, VCV001007966.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866297	Remapped	Perfect	NC_000004.12:g.(?_ 127883262)_(128210 053_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	127,883,262	128,210,053
nssv17173242	Remapped	Perfect	NC_000004.12:g.(?_ 127883262)_(128210 053_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	127,883,262	128,210,053
nssv16866297	Submitted genomic		NC_000004.11:g.(?_ 128804417)_(129131 208_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	128,804,417	129,131,208
nssv17173242	Submitted genomic		NC_000004.11:g.(?_ 128804417)_(129131 208_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	128,804,417	129,131,208

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
nssv16866297	GRCh37: NC_000004.11:g.(?_128804417)_(129131208_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001305226.1, VCV001007966.1
nssv17173242	GRCh37: NC_000004.11:g.(?_128804417)_(129131208_?)dup	duplication	germline	CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV000708382.1, VCV001007966.1

No genotype data were submitted for this variant

You are here: NCBI