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dbVar

Database of genomic structural variation

nsv4682090

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:49,710

Description:NC_000003.12:g.(?_93924230)_(93973939_?)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: 184 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):93,924,230-93,973,939

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682090	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	93,924,230	93,973,939
nsv4682090	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	93,643,074	93,692,783

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213926	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	RCV001032343.3, VCV000831813.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213926	Remapped	Perfect	NC_000003.12:g.(?_ 93924230)_(9397393 9_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	93,924,230	93,973,939
nssv16213926	Submitted genomic		NC_000003.11:g.(?_ 93643074)_(9369278 3_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	93,643,074	93,692,783

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
nssv16213926	GRCh37: NC_000003.11:g.(?_93643074)_(93692783_?)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	RCV001032343.3, VCV000831813.3

No genotype data were submitted for this variant

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