A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009056



Internal ID19098274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174488394..174580527hg38UCSC Ensembl
Innerchr1:174457532..174549665hg19UCSC Ensembl
Innerchr1:172724155..172816288hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3892134
hg1992134
hg1892134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502492
Samples
Known GenesRABGAP1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009056
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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