A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032221



Internal ID19121443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48263192..48507088hg38UCSC Ensembl
Innerchr7:48302789..48546684hg19UCSC Ensembl
Innerchr7:48273335..48517230hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38243897
hg19243896
hg18243896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6346n100
Supporting Variantsnssv3752960
Samples
Known GenesABCA13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032221
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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