A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011567



Internal ID19100784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16643804..16788205hg38UCSC Ensembl
Innerchr1:16970299..17114700hg19UCSC Ensembl
Innerchr1:16842886..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38144402
hg19144402
hg18144402
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70n100
Supporting Variantsnssv3462922, nssv3467052, nssv3467623
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)nsv1011567
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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