A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000630



Internal ID18743161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16898463..16977337hg38UCSC Ensembl
Innerchr1:17224958..17303832hg19UCSC Ensembl
Innerchr1:17097545..17176419hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3878875
hg1978875
hg1878875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv120n100
Supporting Variantsnssv3480714
Samples
Known GenesCROCC, MFAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000630
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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