A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004604



Internal ID18747135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132900543..133004221hg38UCSC Ensembl
Innerchr2:133658116..133761794hg19UCSC Ensembl
Innerchr2:133374586..133478264hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38103679
hg19103679
hg18103679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582782
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004604
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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