A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260387



Internal ID22133132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29582619..32306977hg38UCSC Ensembl
Outerchr16:29593940..32318298hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38637980
hg19637980
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231669
Supporting Variants
SamplesHG00513
Known GenesAHSP, ALDOA, ARMC5, ASPHD1, BCKDK, BCL7C, BOLA2, BOLA2B, C16orf54, C16orf58, C16orf92, C16orf93, C16orf98, CD2BP2, CDIPT, CDIPT-AS1, CLUHP3, CORO1A, COX6A2, CTF1, DCTPP1, DOC2A, FAM57B, FBRS, FBXL19, FBXL19-AS1, FUS, GDPD3, HERC2P4, HIRIP3, HSD3B7, INO80E, ITGAD, ITGAL, ITGAM, ITGAX, KAT8, KCTD13, KIF22, LOC100862671, LOC388242, LOC390705, LOC440354, LOC595101, LOC606724, LOC613037, LOC613038, LOC730183, MAPK3, MAZ, MIR4518, MIR4519, MIR762, MVP, MYLPF, ORAI3, PAGR1, PHKG2, PPP4C, PRR14, PRRT2, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, QPRT, RNF40, SEPHS2, SEPT1, SETD1A, SEZ6L2, SLC5A2, SLC7A5P1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA30, SPN, SRCAP, STX1B, STX4, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TGFB1I1, TMEM219, TP53TG3D, TRIM72, VKORC1, YBX3P1, YPEL3, ZG16, ZNF267, ZNF48, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF720, ZNF747, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260387
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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