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dbVar

Database of genomic structural variation

nsv4453493

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:5,898,771

Description:GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)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: 12840 SVs from 112 studies. See in: genome view

Remapped(Score: Good):163,123,231-169,022,001

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4453493	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	163,123,231	169,022,001
nsv4453493	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	163,093,021	168,991,239

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773206	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000849156.2, VCV000688465.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773206	Remapped	Good	NC_000001.11:g.(?_ 163123231)_(169022 001_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	163,123,231	169,022,001
nssv15773206	Submitted genomic		NC_000001.10:g.(?_ 163093021)_(168991 239_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	163,093,021	168,991,239

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
nssv15773206	GRCh37: NC_000001.10:g.(?_163093021)_(168991239_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000849156.2, VCV000688465.2	1

No genotype data were submitted for this variant

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