A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064960



Internal ID18807491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45699492..45806729hg38UCSC Ensembl
Innerchr17:43776858..43884095hg19UCSC Ensembl
Innerchr17:41132641..41239875hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38107238
hg19107238
hg18107235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545124
Samples
Known GenesCRHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064960
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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