A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006079



Internal ID19095297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44417118..44452146hg38UCSC Ensembl
Innerchr2:44644257..44679285hg19UCSC Ensembl
Innerchr2:44497761..44532789hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3835029
hg1935029
hg1835029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581593
Samples
Known GenesCAMKMT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006079
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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