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dbVar

Database of genomic structural variation

nsv5672806

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:926,648

Description:
See descriptions for individual calls in download files
Publication(s):Jalanko et al. 2008

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: 2080 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):76,991,952-77,918,599

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672806	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	76,991,952	77,918,599
nsv5672806	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	77,566,087	78,492,734

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171647	deletion	Multiple	Multiple	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Pathogenic	ClinVar	RCV001387711.4, VCV001074432.4
nssv17975005	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001930270.3, VCV001409001.3
nssv18787071	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003120596.2, VCV001074432.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171647	Remapped	Perfect	NC_000013.11:g.(?_ 76991952)_(7791859 9_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	76,991,952	77,918,599
nssv17975005	Remapped	Perfect	NC_000013.11:g.(?_ 76991952)_(7791859 9_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	76,991,952	77,918,599
nssv18787071	Remapped	Perfect	NC_000013.11:g.(?_ 76991952)_(7791859 9_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	76,991,952	77,918,599
nssv17171647	Submitted genomic		NC_000013.10:g.(?_ 77566087)_(7849273 4_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	77,566,087	78,492,734
nssv17975005	Submitted genomic		NC_000013.10:g.(?_ 77566087)_(7849273 4_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	77,566,087	78,492,734
nssv18787071	Submitted genomic		NC_000013.10:g.(?_ 77566087)_(7849273 4_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	77,566,087	78,492,734

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
nssv17171647	GRCh37: NC_000013.10:g.(?_77566087)_(78492734_?)del	deletion	germline	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Pathogenic	ClinVar	RCV001387711.4, VCV001074432.4
nssv17975005	GRCh37: NC_000013.10:g.(?_77566087)_(78492734_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001930270.3, VCV001409001.3
nssv18787071	GRCh37: NC_000013.10:g.(?_77566087)_(78492734_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003120596.2, VCV001074432.4

No genotype data were submitted for this variant

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