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dbVar

Database of genomic structural variation

nsv5673212

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:6,331

Description:NC_000002.11:g.(?_175612832)_(175619162_?)del AND Lethal multiple pterygium syndrome

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: 136 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):174,748,104-174,754,434

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673212	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	174,748,104	174,754,434
nsv5673212	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	175,612,832	175,619,162

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171918	deletion	Multiple	Multiple	Lethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS	Pathogenic	ClinVar	RCV001390370.2, VCV001076455.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171918	Remapped	Perfect	NC_000002.12:g.(?_ 174748104)_(174754 434_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	174,748,104	174,754,434
nssv17171918	Submitted genomic		NC_000002.11:g.(?_ 175612832)_(175619 162_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	175,612,832	175,619,162

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
nssv17171918	GRCh37: NC_000002.11:g.(?_175612832)_(175619162_?)del	deletion	germline	Lethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS	Pathogenic	ClinVar	RCV001390370.2, VCV001076455.2

No genotype data were submitted for this variant

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