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dbVar

Database of genomic structural variation

nsv6636303

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:6,871,197

Description:GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1 AND not provided

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: 19237 SVs from 132 studies. See in: genome view

Remapped(Score: Perfect):193,042,623-199,913,819

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636303	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	193,042,623	199,913,819
nsv6636303	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	193,011,753	199,882,947

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330283	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002474543.1, VCV001808698.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330283	Remapped	Perfect	NC_000001.11:g.(?_ 193042623)_(199913 819_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	193,042,623	199,913,819
nssv18330283	Submitted genomic		NC_000001.10:g.(?_ 193011753)_(199882 947_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	193,011,753	199,882,947

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	Copy number
nssv18330283	GRCh37: NC_000001.10:g.(?_193011753)_(199882947_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV002474543.1, VCV001808698.1	1

No genotype data were submitted for this variant

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