A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv659604



Internal ID15049570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236439023..236624489hg38UCSC Ensembl
Innerchr1:236602323..236787789hg19UCSC Ensembl
Innerchr1:234668946..234854412hg18UCSC Ensembl
Innerchr1:232928364..233113830hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38185467
hg19185467
hg18185467
hg17185467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516855
Supporting Variants
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv659604
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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