A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2464972



Internal ID17424832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73193985..73282738hg38UCSC Ensembl
Innerchr7:72608025..72696755hg19UCSC Ensembl
Innerchr7:72245961..72334691hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3888754
hg1988731
hg1888731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981526
Supporting Variants
SamplesHGDP00542
Known GenesGTF2IP1, LOC100093631, NCF1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2464972
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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