A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006136



Internal ID18748667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247539376..247637063hg38UCSC Ensembl
Innerchr1:247702678..247800365hg19UCSC Ensembl
Innerchr1:245769301..245866988hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3897688
hg1997688
hg1897688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3486628
Samples
Known GenesGCSAML, OR2G2, OR2G3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006136
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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