A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017149



Internal ID18759684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31394533..31483699hg38UCSC Ensembl
Innerchr6:31362310..31451476hg19UCSC Ensembl
Innerchr6:31470289..31559455hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3889167
hg1989167
hg1889167
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5943n100
Supporting Variantsnssv3655872, nssv3655871, nssv3655876, nssv3655874, nssv3655873, nssv3655875
Samples
Known GenesHCG26, HCP5, MICA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017149
Frequency
Sample Size29084
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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