A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005136



Internal ID18747667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16643671hg38UCSC Ensembl
Innerchr1:16871266..16970166hg19UCSC Ensembl
Innerchr1:16743853..16842753hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3898901
hg1998901
hg1898901
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47n100
Supporting Variantsnssv3467126, nssv3698809, nssv3698807, nssv3698808, nssv3479879
Samples
Known GenesCROCCP2, MIR3675, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005136
Frequency
Sample Size29084
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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