A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017498



Internal ID19106715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16222675..16273851hg38UCSC Ensembl
Innerchr7:16262300..16313476hg19UCSC Ensembl
Innerchr7:16228825..16280001hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3851177
hg1951177
hg1851177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643193
Samples
Known GenesISPD, ISPD-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017498
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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