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dbVar

Database of genomic structural variation

nsv7096503

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:619,193

Description:NC_000002.11:g.(?_38297865)_(38917056_?)del AND Congenital glaucoma

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: 1913 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):38,070,722-38,689,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	38,070,722	38,689,914
nsv7096503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	38,297,865	38,917,056

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791175	deletion	Multiple	Multiple	Congenital glaucoma	Pathogenic	ClinVar	RCV003119314.2, VCV002422363.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791175	Remapped	Perfect	NC_000002.12:g.(?_ 38070722)_(3868991 4_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,070,722	38,689,914
nssv18791175	Submitted genomic		NC_000002.11:g.(?_ 38297865)_(3891705 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	38,297,865	38,917,056

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
nssv18791175	GRCh37: NC_000002.11:g.(?_38297865)_(38917056_?)del	deletion	germline	Congenital glaucoma	Pathogenic	ClinVar	RCV003119314.2, VCV002422363.3

No genotype data were submitted for this variant

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