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dbVar

Database of genomic structural variation

nsv3874679

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:2,944

Description:GRCh37/hg19 4q13.3(chr4:73000885-73003828)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: 108 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):72,135,168-72,138,111

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3874679	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	72,135,168	72,138,111
nsv3874679	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	73,000,885	73,003,828

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15165611	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000743700.2, VCV000607064.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15165611	Remapped	Perfect	NC_000004.12:g.(?_ 72135168)_(7213811 1_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	72,135,168	72,138,111
nssv15165611	Submitted genomic		NC_000004.11:g.(?_ 73000885)_(7300382 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	73,000,885	73,003,828

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
nssv15165611	GRCh37: NC_000004.11:g.(?_73000885)_(73003828_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000743700.2, VCV000607064.2	1

No genotype data were submitted for this variant

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