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dbVar

Database of genomic structural variation

nsv4596515

Organism: Homo sapiens

Study:nstd183 (DECIPHER Consensus CNVs)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:203

Links to Other Resources

Overlapping Genes

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: 110 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):51,959,100-51,959,302

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4596515	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	51,959,100	51,959,302
nsv4596515	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	51,993,116	51,993,318

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16098537	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16098537	Remapped	Perfect	NC_000003.12:g.(?_ 51959100)_(5195930 2_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	51,959,100	51,959,302
nssv16098537	Submitted genomic		NC_000003.11:g.(?_ 51993116)_(5199331 8_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	51,993,116	51,993,318

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16098537	0.001	1	845

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