A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978482



Internal ID19231125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:1375907..1558607hg38UCSC Ensembl
OuterchrY:1444800..1627500hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg38182701
hg19182701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115920
Supporting Variants
SamplesKWS2
Known GenesASMTL, ASMTL-AS1, IL3RA, P2RY8, SLC25A6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978482
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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