A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2571996



Internal ID17813161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119841570..119845302hg38UCSC Ensembl
Innerchr1:120384193..120387925hg19UCSC Ensembl
Innerchr1:120185716..120189448hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg383733
hg193733
hg183733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945590
Supporting Variants
SamplesHGDP00927
Known GenesNBPF7
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2571996
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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