A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001064



Internal ID19090281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127071365..127104681hg38UCSC Ensembl
Innerchr2:127828941..127862257hg19UCSC Ensembl
Innerchr2:127545411..127578727hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3833317
hg1933317
hg1833317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580746
Samples
Known GenesBIN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001064
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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