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dbVar

Database of genomic structural variation

nsv5673584

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:72,438

Description:NC_000005.9:g.(?_178699902)_(178772339_?)del AND Ehlers-Danlos syndrome, dermatosparaxis type

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: 457 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):179,272,901-179,345,338

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673584	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	179,272,901	179,345,338
nsv5673584	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	37,608	110,045
nsv5673584	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	178,699,902	178,772,339

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172600	deletion	Multiple	Multiple	Dermatosparaxis Ehlers-Danlos syndrome; EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS; Ehlers-Danlos syndrome dermatosparaxis type	Pathogenic	ClinVar	RCV001381826.4, VCV001069859.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172600	Remapped	Perfect	NW_016107298.1:g.( ?_37608)_(110045_? )del	GRCh38.p12	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	37,608	110,045
nssv17172600	Remapped	Perfect	NC_000005.10:g.(?_ 179272901)_(179345 338_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	179,272,901	179,345,338
nssv17172600	Submitted genomic		NC_000005.9:g.(?_1 78699902)_(1787723 39_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	178,699,902	178,772,339

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
nssv17172600	GRCh37: NC_000005.9:g.(?_178699902)_(178772339_?)del	deletion	germline	Dermatosparaxis Ehlers-Danlos syndrome; EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS; Ehlers-Danlos syndrome dermatosparaxis type	Pathogenic	ClinVar	RCV001381826.4, VCV001069859.5

No genotype data were submitted for this variant

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