A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005199



Internal ID18747730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16876990..16968705hg38UCSC Ensembl
Innerchr1:17203485..17295200hg19UCSC Ensembl
Innerchr1:17076072..17167787hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3891716
hg1991716
hg1891716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv111n100
Supporting Variantsnssv3466448, nssv3700257
Samples
Known GenesCROCC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005199
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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