A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2571752



Internal ID17774223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:586210..588370hg38UCSC Ensembl
Innerchr1:521590..523750hg19UCSC Ensembl
Innerchr1:511453..513613hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382161
hg192161
hg182161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945540
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2571752
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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