A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012082



Internal ID19101300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182917936..182961074hg38UCSC Ensembl
Innerchr1:182887071..182930209hg19UCSC Ensembl
Innerchr1:181153694..181196832hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3843139
hg1943139
hg1843139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv477n100
Supporting Variantsnssv3492261
Samples
Known GenesSHCBP1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012082
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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