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dbVar

Database of genomic structural variation

nsv7096197

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:1,270,038

Description:NC_000002.11:g.(?_127806102)_(129076137_?)del AND Thrombophilia due to protein C deficiency, autosomal dominant

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: 3613 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):127,048,526-128,318,563

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096197	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	127,048,526	128,318,563
nsv7096197	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	127,806,102	129,076,137

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788971	deletion	Multiple	Multiple	Severe hereditary thrombophilia due to congenital protein C deficiency; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	Pathogenic	ClinVar	RCV003110990.2, VCV002422856.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788971	Remapped	Perfect	NC_000002.12:g.(?_ 127048526)_(128318 563_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	127,048,526	128,318,563
nssv18788971	Submitted genomic		NC_000002.11:g.(?_ 127806102)_(129076 137_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	127,806,102	129,076,137

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
nssv18788971	GRCh37: NC_000002.11:g.(?_127806102)_(129076137_?)del	deletion	germline	Severe hereditary thrombophilia due to congenital protein C deficiency; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	Pathogenic	ClinVar	RCV003110990.2, VCV002422856.2

No genotype data were submitted for this variant

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