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dbVar

Database of genomic structural variation

nsv4667153

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,353

Description:nsv4625728 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 151 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):50,159-51,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4667153	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_3	First Pass	NT_187682.1	Chr22\|NT_1 87682.1	50,159	51,511
nsv4667153	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,523,820	42,525,172

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16198604	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16198604	Remapped	Perfect	NT_187682.1:g.(?_5 0159)_(51511_?)dup	GRCh38.p12	First Pass	NT_187682.1	Chr22\|NT_1 87682.1	50,159	51,511
nssv16198604	Submitted genomic		NC_000022.10:g.(?_ 42523820)_(4252517 2_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,523,820	42,525,172

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)
nssv16198604	0.046	39	845

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