A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694958



Internal ID15084924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19097292..20497802hg38UCSC Ensembl
Innerchr8:18954802..20355313hg19UCSC Ensembl
Innerchr8:18999082..20399593hg18UCSC Ensembl
Innerchr8:18999082..20399593hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381400511
hg191400512
hg181400512
hg171400512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522185
Supporting Variants
Samples
Known GenesATP6V1B2, CSGALNACT1, INTS10, LOC100128993, LPL, LZTS1, LZTS1-AS1, SH2D4A, SLC18A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694958
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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