A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000271



Internal ID19089488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44466285..44563404hg38UCSC Ensembl
Innerchr2:44693424..44790543hg19UCSC Ensembl
Innerchr2:44546928..44644047hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3897120
hg1997120
hg1897120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581594
Samples
Known GenesCAMKMT, MIR548AD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000271
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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