A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv661842



Internal ID15051808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128250324..128386380hg38UCSC Ensembl
Innerchr2:129007898..129143954hg19UCSC Ensembl
Innerchr2:128724368..128860424hg18UCSC Ensembl
Innerchr2:128724128..128860184hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38136057
hg19136057
hg18136057
hg17136057
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516672
Supporting Variants
Samples
Known GenesHS6ST1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv661842
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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