A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678093



Internal ID15068059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96217861..96222332hg38UCSC Ensembl
Innerchr14:96684198..96688669hg19UCSC Ensembl
Innerchr14:95753951..95758422hg18UCSC Ensembl
Innerchr14:95753951..95758422hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg384472
hg194472
hg184472
hg174472
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515629
Supporting Variants
Samples
Known GenesBDKRB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678093
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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