A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005656



Internal ID18748187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231070186..231125386hg38UCSC Ensembl
Innerchr2:231934900..231990100hg19UCSC Ensembl
Innerchr2:231643144..231698344hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3855201
hg1955201
hg1855201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4181n100
Supporting Variantsnssv3586869
Samples
Known GenesHTR2B, PSMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005656
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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