A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006405



Internal ID18748936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44013164..44709137hg38UCSC Ensembl
Innerchr2:44240303..44936276hg19UCSC Ensembl
Innerchr2:44093807..44789780hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38695974
hg19695974
hg18695974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725988
Samples
Known GenesCAMKMT, MIR548AD, PPM1B, PREPL, SLC3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006405
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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