A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005547



Internal ID19094764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56524439..56660152hg38UCSC Ensembl
Innerchr2:56751574..56887287hg19UCSC Ensembl
Innerchr2:56605078..56740791hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38135714
hg19135714
hg18135714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3852n100
Supporting Variantsnssv3576690
Samples
Known GenesRNU6-35P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005547
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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