A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001392



Internal ID18743923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16636806..16788205hg38UCSC Ensembl
Innerchr1:16963301..17114700hg19UCSC Ensembl
Innerchr1:16835888..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38151400
hg19151400
hg18151400
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70n100
Supporting Variantsnssv3479882, nssv3470044, nssv3476160
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1L, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001392
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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