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dbVar

Database of genomic structural variation

nsv6311807

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:252,246

Description:NC_000003.11:g.(?_93593089)_(93845334_?)del AND Thrombophilia due to protein S deficiency, autosomal recessive

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: 532 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):93,874,245-94,126,490

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311807	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	93,874,245	94,126,490
nsv6311807	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	93,593,089	93,845,334

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971397	deletion	Multiple	Multiple	Severe hereditary thrombophilia due to congenital protein S deficiency; THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6; Thrombophilia due to protein S deficiency, autosomal recessive	Pathogenic	ClinVar	RCV001953740.2, VCV001457416.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971397	Remapped	Perfect	NC_000003.12:g.(?_ 93874245)_(9412649 0_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	93,874,245	94,126,490
nssv17971397	Submitted genomic		NC_000003.11:g.(?_ 93593089)_(9384533 4_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	93,593,089	93,845,334

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
nssv17971397	GRCh37: NC_000003.11:g.(?_93593089)_(93845334_?)del	deletion	germline	Severe hereditary thrombophilia due to congenital protein S deficiency; THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6; Thrombophilia due to protein S deficiency, autosomal recessive	Pathogenic	ClinVar	RCV001953740.2, VCV001457416.2

No genotype data were submitted for this variant

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